| HP:0000007 | Autosomal recessive inheritance | "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0000076 | Vesicoureteral reflux | "Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes." [HPO:curators] |
Show
|
| HP:0000122 | Unilateral renal agenesis | |
Show
|
| HP:0000219 | Thin upper lip | |
Show
|
| HP:0000252 | Microcephaly | "Microcephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than the age- and gender-dependent norm." [HPO:curators] |
Show
|
| HP:0000340 | Sloping forehead | "A form of the forehead that slopes from top to bottom in an anterior direction." [HPO:curators] |
Show
|
| HP:0000582 | Upslanting palpebral fissures | |
Show
|
| HP:0000718 | Aggressive behavior | "Aggressive behavior can denote verbal aggression, physical aggression against objects, physical aggression against people, and may also include aggression towards oneself." [HPO:curators] |
Show
|
| HP:0000750 | Impaired language development | |
Show
|
| HP:0000752 | Hyperactivity | |
Show
|
| HP:0001249 | Mental retardation | |
Show
|
| HP:0001250 | Seizures | "Seizures are an intermittent `abnormality of the central nervous system` (FMA:HP:0002011) due to a sudden, excessive, disorderly discharge of cerebral neurons and characterized clinically by some combination of disturbance of sensation, loss of consciousness, impairment of psychic function, or convulsive movements." [HPO:probinson] |
Show
|
| HP:0001263 | Developmental retardation | "A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments." [HPO:curators] |
Show
|
| HP:0001269 | Hemiparesis | "Relatively mild weakness in the arm, leg, and in some cases the face on one side of the body." [HPO:curators] |
Show
|
| HP:0001274 | Agenesis of corpus callosum | "Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline." [HPO:curators] |
Show
|
| HP:0001285 | Spastic tetraparesis | "Spastic weakness affecting all four limbs." [HPO:curators] |
Show
|
| HP:0001302 | Pachygyria | "A congenital abnormality of the cerebral hemisphere chacterized by unusually thick gyrations (convolutions) of the cerebral cortex." [HPO:curators] |
Show
|
| HP:0001347 | Hyperreflexia | "The presence of overactive or overresponsive reflexes." [HPO:curators] |
Show
|
| HP:0001558 | Decreased fetal movement | "An abnormal reduction in quantity or strength of fetal movements." [HPO:curators] |
Show
|
| HP:0002079 | Hypoplasia of the corpus callosum | "Underdevelopment of the corpus callosum." [HPO:curators] |
Show
|
| HP:0002119 | Ventriculomegaly | |
Show
|
| HP:0002126 | Polymicrogyria | "A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain." [HPO:curators] |
Show
|
| HP:0002282 | Heterotopia | |
Show
|
| HP:0003103 | Abnormality of cortical bone | "An abnormality of cortical bone (also known as compact bone), which forms the dense surface of bones." [HPO:curators] |
Show
|
| HP:0003577 | Onset at birth | |
Show
|
| HP:0004322 | Decreased body height | "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators] |
Show
|
| HP:0007333 | Hypoplastic frontal lobes | "Underdevelopment of the frontal lobe of the cerebrum." [HPO:sdoelken] |
Show
|
| HP:0009879 | Cortical gyral simplification | "An abnormal reduction of the number and complexity of the pattern of gyrations of the cerebral cortex." [HPO:curators] |
Show
|
| HP:0010636 | Schizencephaly | "The presence of a cleft in the cerebral cortex unilaterally or bilaterally, usually located in the frontal area." [HPO:curators] |
Show
|
| HP:0010864 | Mental retardation, severe | "Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34." [HPO:probinson] |
Show
|
| HP:0100710 | Impulsivity | |
Show
|
